Phase 2B Study of PTC124 (Ataluren) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)
Launched by PTC THERAPEUTICS · Jan 1, 2008
Trial Information
Current as of June 20, 2025
Completed
Keywords
ClinConnect Summary
This study is a Phase 2b, multicenter, randomized, double-blind, placebo-controlled, dose-ranging, efficacy and safety study, designed to document the clinical benefit of ataluren when administered as therapy of patients with DMD/BMD due to a nonsense mutation (premature stop codon) in the dystrophin gene.
Gender
MALE
Eligibility criteria
- Inclusion Criteria:
- • Ability to provide written informed consent (parental/guardian consent if applicable)/assent (if \<18 years of age).
- • Male sex.
- • Age ≥5 years.
- • Phenotypic evidence of DMD/BMD based on the onset of characteristic clinical symptoms or signs (that is, proximal muscle weakness, waddling gait, and Gowers' maneuver) by 9 years of age, an elevated serum CK level, and ongoing difficulty with ambulation.
- • Documentation of the presence of a nonsense point mutation in the dystrophin gene as determined by gene sequencing from a laboratory certified by the College of American Pathologists (CAP), the Clinical Laboratory Improvement Act/Amendment (CLIA), or an equivalent organization.
- • Documentation that a blood sample has been drawn for confirmation of the presence of a nonsense mutation in the dystrophin gene.
- • Ability to walk ≥75 meters unassisted during the screening 6-minute walk test. Note: Other personal assistance or use of assistive devices for ambulation (for example, short leg braces, long leg braces or walkers) were not permitted.
- • Confirmed screening laboratory values within the central laboratory ranges (hepatic, adrenal, renal, and serum electrolytes parameters).
- • In participants who were sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during the study drug administration and 6-week follow-up periods.
- • Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions. Note: Psychological, social, familial, or geographical factors that might preclude adequate study participation (in particular, the ability to satisfactorily perform the 6MWT) should have been considered.
- Exclusion Criteria:
- • Treatment with systemic aminoglycoside antibiotics within 3 months prior to start of study treatment.
- • Initiation of systemic corticosteroid therapy within 6 months prior to start of study treatment or change in systemic corticosteroid therapy (for example, initiation, change in type of drug, dose modification not related to body weight change, schedule modification, interruption, discontinuation, or reinitiation) within 3 months prior to start of study treatment.
- • Any change (initiation, change in type of drug, dose modification, schedule modification, interruption, discontinuation, or reinitiation) in prophylaxis/treatment for congestive heart failure within 3 months prior to start of study treatment.
- • Treatment with warfarin within 1 month prior to start of study treatment.
- • Prior therapy with ataluren.
- • Known hypersensitivity to any of the ingredients or excipients of the study drug (Litesse® UltraTM \[refined polydextrose\], polyethylene glycol 3350, Lutrol® micro F127 \[poloxamer 407\], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, Cab-O-Sil® M5P \[colloidal silica\], magnesium stearate).
- • Exposure to another investigational drug within 2 months prior to start of study treatment.
- • History of major surgical procedure within 30 days prior to start of study treatment.
- • Ongoing immunosuppressive therapy (other than corticosteroids).
- • Ongoing participation in any other therapeutic clinical trial.
- • Expectation of major surgical procedure (for example, scoliosis surgery) during the 12-month treatment period of the study.
- • Requirement for daytime ventilator assistance.
- • Clinical symptoms and signs of congestive heart failure (American College of Cardiology/American Heart Association Stage C or Stage D) or evidence on echocardiogram of clinically significant myopathy.
- • Prior or ongoing medical condition (for example, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, electrocardiogram findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.
About Ptc Therapeutics
PTC Therapeutics is a biotechnology company dedicated to the discovery and development of innovative medicines for the treatment of rare diseases and cancer. With a strong focus on advancing its proprietary drug development pipeline, PTC Therapeutics employs cutting-edge science and technology to address unmet medical needs. The company collaborates with a network of academic institutions, patient advocacy groups, and industry partners to drive research initiatives and clinical trials aimed at improving patient outcomes. Committed to patient-centered care, PTC Therapeutics strives to bring transformative therapies to market that enhance the quality of life for individuals affected by challenging health conditions.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Minneapolis, Minnesota, United States
Durham, North Carolina, United States
Philadelphia, Pennsylvania, United States
Saint Louis, Missouri, United States
Cincinnati, Ohio, United States
Vancouver, British Columbia, Canada
Salt Lake City, Utah, United States
Philadelphia, Pennsylvania, United States
London, Ontario, Canada
Salt Lake City, Utah, United States
Parkville, Victoria, Australia
Saint Louis, Missouri, United States
Sacramento, California, United States
Aurora, Colorado, United States
Pensacola, Florida, United States
Iowa City, Iowa, United States
Kansas City, Kansas, United States
Boston, Massachusetts, United States
New York, New York, United States
Portland, Oregon, United States
Dallas, Texas, United States
Westmead, , Australia
Leuven, , Belgium
Calgary, Alberta, Canada
Marseille, , France
Nantes, , France
Paris, , France
Essen, , Germany
Freiburg, , Germany
Jerusalem, , Israel
Milan, , Italy
Rome, , Italy
Rome, , Italy
Barcelona, , Spain
Valencia, , Spain
Göteborg, , Sweden
Stockholm, , Sweden
London, , United Kingdom
Newcastle, , United Kingdom
Oswestry, , United Kingdom
Patients applied
Trial Officials
Leone Atkinson, MD, PhD
Study Director
PTC Therapeutics
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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